ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1010T>C (p.Val337Ala)

dbSNP: rs1272426209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016991 SCV001178009 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-07 criteria provided, single submitter clinical testing The p.V337A variant (also known as c.1010T>C), located in coding exon 8 of the STK11 gene, results from a T to C substitution at nucleotide position 1010. The valine at codon 337 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001860850 SCV002165260 uncertain significance Peutz-Jeghers syndrome 2021-11-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STK11 protein function. ClinVar contains an entry for this variant (Variation ID: 822007). This variant has not been reported in the literature in individuals affected with STK11-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 337 of the STK11 protein (p.Val337Ala).

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